rs104886377

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104886377(G;T)

Make rs104886377(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108624335

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886377
dbSNP (classic)	rs104886377
ClinGen	rs104886377
ebi	rs104886377
HLI	rs104886377
Exac	rs104886377
Gnomad	rs104886377
Varsome	rs104886377
LitVar	rs104886377
Map	rs104886377
PheGenI	rs104886377
Biobank	rs104886377
1000 genomes	rs104886377
hgdp	rs104886377
ensembl	rs104886377
geneview	rs104886377
scholar	rs104886377
google	rs104886377
pharmgkb	rs104886377
gwascentral	rs104886377
openSNP	rs104886377
23andMe	rs104886377
SNPshot	rs104886377
SNPdbe	rs104886377
MSV3d	rs104886377
GWAS Ctlg	rs104886377

Max Magnitude

0

ClinVar
Risk	rs104886377(T;T)
Alt	rs104886377(T;T)
Reference	Rs104886377(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107867565G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021462.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM	301050
Desc
Variant
Related	also